Lethal Form of Hypophosphatasia: Description of Skeletal Abnormalities and Craniofacial Dysmorphism in Affected Fetuses

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Macroscopic examination of the fetuses revealed additional skeletal abnormalities such as micromelia, bowing of the limbs, and craniofacial dysmorphism. The craniofacial features included relative macrocrania (larger head size in proportion to the body), hypertelorism (increased distance between the eyes), a small nose with anteverted nostrils (nostrils pointing forward), a long philtrum (the groove between the nose and upper lip), thin lips, microretrognathia (smaller-than-normal lower jaw), and low-set ears. It's important to note that the description you provided represents a specific case or cases of the lethal form of hypophosphatasia. The condition can manifest with a wide range of severity, from perinatal lethal cases to mild forms diagnosed in adulthood. The clinical presentation can vary significantly between individuals. If you have any specific questions or would like to know more about a particular aspect of hypophosphatasia, feel free to ask.